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Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions.

作者信息

Cavounidis Athena, Uhlig Holm H

机构信息

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, UK.

Department of Paediatrics, University of Oxford, Oxford, UK.

出版信息

Dig Dis Sci. 2018 Apr;63(4):811-813. doi: 10.1007/s10620-018-4953-3.

DOI:10.1007/s10620-018-4953-3
PMID:29411209
Abstract
摘要

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Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions.尼曼-匹克病C1型中的克罗恩病:陷入宿主-微生物相互作用的交叉火力之中
Dig Dis Sci. 2018 Apr;63(4):811-813. doi: 10.1007/s10620-018-4953-3.
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New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.与极严重病程及明显早期小脑蚓部萎缩相关的新型尼曼-匹克C1型基因突变。
J Child Neurol. 2013 Dec;28(12):1694-7. doi: 10.1177/0883073812462765. Epub 2012 Oct 30.
3
Niemann-pick disease type C and Crohn's disease.C型尼曼-匹克病和克罗恩病
Scott Med J. 2005 May;50(2):80-1. doi: 10.1177/003693300505000213.
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Niemann-Pick type III and Crohn's disease.尼曼-匹克病III型与克罗恩病。
J R Soc Med. 1983 Apr;76(4):307-8. doi: 10.1177/014107688307600414.
5
Prenatal diagnosis of Niemann-Pick diseases types A, B and C.尼曼-匹克病A、B和C型的产前诊断
Prenat Diagn. 2002 Jul;22(7):630-2. doi: 10.1002/pd.368.
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Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group.尼曼-匹克C型患者组织中铁蛋白免疫反应性不足:研究结果扩展至胎儿组织、H和L铁蛋白亚型,以及1例罕见的尼曼-匹克C2互补组病例。
Mol Genet Metab. 2000 Jul;70(3):196-202. doi: 10.1006/mgme.2000.3004.
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An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.铜代谢紊乱的一种不寻常表现以及与尼曼-匹克C型病的可能联系。
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[Niemann-Pick disease type C and cholesterol].[C型尼曼-匹克病与胆固醇]
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Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.Ⅲ型黏多糖贮积症的胃肠道表现:死亡证明及文献综述
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Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease.

本文引用的文献

1
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.BALB/c 尼曼-匹克病 C1 型缺陷小鼠模型的胃肠道病理学。
Dig Dis Sci. 2018 Apr;63(4):870-880. doi: 10.1007/s10620-018-4914-x. Epub 2018 Jan 22.
2
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK.甲基-β-环糊精通过激活 AMPK 恢复尼曼-匹克 C1 缺陷细胞中受损的自噬通量。
Autophagy. 2017 Aug 3;13(8):1435-1451. doi: 10.1080/15548627.2017.1329081. Epub 2017 Jun 14.
3
Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex.
膳食植物甾烷醇酯补充剂可减轻尼曼-匹克 C1 型疾病小鼠模型的外周症状。
J Lipid Res. 2020 Jun;61(6):830-839. doi: 10.1194/jlr.RA120000632. Epub 2020 Apr 14.
4
Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.目前理解尼曼-匹克病 C1 型细胞和分子机制的挑战。
Int J Mol Sci. 2019 Sep 6;20(18):4392. doi: 10.3390/ijms20184392.
溶酶体胆固醇通过SLC38A9-尼曼-皮克病C1型信号复合物激活mTORC1。
Science. 2017 Mar 24;355(6331):1306-1311. doi: 10.1126/science.aag1417.
4
Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway.致病性分枝杆菌通过抑制尼曼-匹克C型病细胞途径实现细胞持久性。
Wellcome Open Res. 2016 Nov 18;1:18. doi: 10.12688/wellcomeopenres.10036.2.
5
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.抗菌自噬受损将1型尼曼-匹克病和XIAP缺乏症中的肉芽肿性肠道炎症与克罗恩病中的NOD2变体联系起来。
Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.
6
Interaction between TIM-1 and NPC1 Is Important for Cellular Entry of Ebola Virus.TIM-1与NPC1之间的相互作用对埃博拉病毒的细胞进入至关重要。
J Virol. 2015 Jun;89(12):6481-93. doi: 10.1128/JVI.03156-14. Epub 2015 Apr 8.
7
Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells.Niemann-Pick 型 C 患者特异性诱导多能干细胞来源的肝和神经细胞中胆固醇积累和自噬受损的遗传和化学纠正。
Stem Cell Reports. 2014 May 15;2(6):866-80. doi: 10.1016/j.stemcr.2014.03.014. eCollection 2014 Jun 3.
8
Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.脂质贮积病尼曼-匹克C1型疾病中的自噬受损。
Cell Rep. 2013 Dec 12;5(5):1302-15. doi: 10.1016/j.celrep.2013.10.042. Epub 2013 Nov 27.
9
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.不变自然杀伤 T 细胞不受尼曼-匹克病 C 型患者溶酶体贮积的影响。
Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14.
10
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.埃博拉病毒进入需要胆固醇转运蛋白 Niemann-Pick C1。
Nature. 2011 Aug 24;477(7364):340-3. doi: 10.1038/nature10348.